Arthrogryposis, distal, with impaired intellectual development and characteristic facies

Preferred Label : Arthrogryposis, distal, with impaired intellectual development and characteristic facies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 208081;

Details

Origin ID

208081;

UMLS CUI

C5882782;

Automatic exact mappings (from CISMeF team)
- arthrogryposis, distal, with mental retardation and characteristic facies [MeSH concept]
- arthrogryposis, distal, with mental retardation and characteristic facies [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased muscle mass [HPO term]
- Distal arthrogryposis [HPO term]
- Intellectual disability [HPO term]
- Narrow chest [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- arthrogryposis, distal, with mental retardation and characteristic facies [MeSH Supplementary Concept]
- arthrogryposis, distal, with mental retardation and characteristic facies [MeSH concept]

Keyword's position in hierarchy(ies) :

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